부산대학교 도서관

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PLoS biology. 9(4):e1001046

Nabbout R; Department of Pediatric Neurology, Reference Center for Rare Epilepsies, Hôpital Necker-Enfants Malades, APHP, member of ERN EPICARE, Institut Imagine, INSERM U1163, Université Paris Cité, Paris, France. rima.nabbout@aphp.fr.; Zanello G; Institut National de la Santé et de la Recherche Médicale, Paris, France.; Baker D; Martin, Blanck, and Associates, Arlington, VA, USA.; Black L; Sanford Research, Sioux Falls, SD, USA.; Brambilla I; Dravet Italia Onlus Italy - ePAG EpiCARE, Verone, Italy.; Buske OJ; PhenoTips, Toronto, ON, Canada.; Conklin LS; ReveraGen BioPharma, Rockville, MD, USA.; Davies EH; Aparito Limited, Metabolic Support UK, Wrexham, UK.; Julkowska D; Institut National de la Santé et de la Recherche Médicale, Paris, France.; Kim Y; Korea Disease Control and Prevention Agency, Cheongju-si, Chungcheongbuj-do, Korea.; Klopstock T; Friedrich-Baur-Institute, Department of Neurology, LMU Klinikum, Ludwig-Maximilians-Universität München, Ziemssenstr. 1, 80336, Munich, Germany.; Nakamura H; Department of Clinical Research Support, Clinical Research and Education Promotion Division, National Center of Neurology and Psychiatry, Tokyo, Japan.; Nielsen KG; Department of Paediatrics and Adolescent Medicine, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.; Pariser AR; Alltrna, Cambridge, MA, USA.; Pastor JC; IOBA (Eye Institute), University of Valladolid, Valladolid, Spain.; Scarpa M; Regional Coordinating Center for Rare Diseases, Udine University Hospital, Udine, Italy.; European Reference Network. For Hereditary Metabolic Diseases (MetabERN), Dublin, Ireland.; Smith M; Canadian Organization for Rare Disorders, Toronto, ON, Canada.; Taruscio D; National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy.; Groft S; Division of Rare Diseases Research Innovation, National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, MD, USA.

Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

Jacobsen JOB; William Harvey Research Institute, Queen Mary University of London, London, UK. j.jacobsen@qmul.ac.uk.; Baudis M; Department of Molecular Life Sciences, University of Zurich, Zürich, Switzerland.; Computational Oncogenomics Group, Swiss Institute of Bioinformatics, Zürich, Switzerland.; Baynam GS; Western Australian Register of Developmental Anomalies and Genetic Services of WA, King Edward Memorial Hospital, Perth, Western Australia, Australia.; Faculty of Health and Medical Sciences, Division of Paediatrics, University of Western Australia, Perth, Western Australia, Australia.; Genetic and Rare Diseases, Telethon Kids Institute, Perth, Western Australia, Australia.; Beckmann JS; Faculty of Biology and Medicine, University of Lausanne, Lausanne, Switzerland.; Beltran S; CNAG-CRG, Centre for Genomic Regulation (CRG), Bioinformatics Unit, The Barcelona Institute of Science and Technology, Barcelona, Spain.; Universitat Pompeu Fabra (UPF), Barcelona, Spain.; Departament de Genètica, Microbiologia i Estadística, Facultat de Biologia, Universitat de Barcelona (UB), Barcelona, Spain.; Buske OJ; PhenoTips, Toronto, Ontario, Canada.; Callahan TJ; Center for Health AI, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.; Chute CG; Schools of Medicine, Public Health, and Nursing, Baltimore, Johns Hopkins University, Baltimore, MD, USA.; Courtot M; European Bioinformatics Institute, European Molecular Biology Laboratory (EMBL-EBI), Hinxton, UK.; Genome Informatics, Ontario Institute for Cancer Research, Toronto, Ontario, Canada.; Danis D; Genomic Medicine, The Jackson Laboratory, Farmington, CT, USA.; Elemento O; Caryl and Israel Englander Institute for Precision Medicine, Weill Cornell Medicine, New York, NY, USA.; Essenwanger A; Core Facility Digital Medicine and Interoperability, Berlin Institute of Health at Charité-Universitätsmedizin Berlin, Berlin, Germany.; Freimuth RR; Department of Artificial Intelligence and Informatics, Mayo Clinic, Rochester, MN, USA.; Gargano MA; Genomic Medicine, The Jackson Laboratory, Farmington, CT, USA.; Groza T; EMBL-EBI, Cambridge, UK.; Hamosh A; Department of Genetic Medicine, Johns Hopkins University, Baltimore, MD, USA.; Harris NL; Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA, USA.; Kaliyaperumal R; Human Genetics, Leiden University Medical Center, Leiden, the Netherlands.; Lloyd KCK; Mouse Biology Program, University of California Davis, Davis, CA, USA.; Department of Surgery, University of California Davis School of Medicine, Sacramento, CA, USA.; Khalifa A; Department of Artificial Intelligence and Informatics, Mayo Clinic, Rochester, MN, USA.; Krawitz PM; University Hospital Bonn, Bonn, Germany, and Institute for Genomic Statistics and Bioinformatics, Bonn, Germany.; Köhler S; Ada Health GmbH, Berlin, Germany.; Laraway BJ; Center for Health AI, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.; Lehväslaiho H; Sensitive Data Services, CSC-IT Center for Science, Espoo, Finland.; Matalonga L; CNAG-CRG, Centre for Genomic Regulation (CRG), Bioinformatics Unit, The Barcelona Institute of Science and Technology, Barcelona, Spain.; McMurry JA; Center for Health AI, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.; Metke-Jimenez A; The Australian e-Health Research Centre, CSIRO, Herston, Queensland, Australia.; Mungall CJ; Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA, USA.; Munoz-Torres MC; Center for Health AI, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.; Ogishima S; Tohoku University, INGEM, Sendai, Japan.; Papakonstantinou A; CNAG-CRG, Centre for Genomic Regulation (CRG), Bioinformatics Unit, The Barcelona Institute of Science and Technology, Barcelona, Spain.; Piscia D; CNAG-CRG, Centre for Genomic Regulation (CRG), Bioinformatics Unit, The Barcelona Institute of Science and Technology, Barcelona, Spain.; Pontikos N; Institute of Ophthalmology, University College London, London, UK.; Genetics Service, Moorfields Eye Hospital, London, UK.; Queralt-Rosinach N; Human Genetics, Leiden University Medical Center, Leiden, the Netherlands.; Roos M; Human Genetics, Leiden University Medical Center, Leiden, the Netherlands.; Sass J; Core Facility Digital Medicine and Interoperability, Berlin Institute of Health at Charité-Universitätsmedizin Berlin, Berlin, Germany.; Schofield PN; Department of Physiology, Development and Neuroscience, University of Cambridge, Cambridge, UK.; Mammalian Genetics, The Jackson Laboratory, Bar Harbor, ME, USA.; The Alan Turing Institute, London, UK.; Seelow D; Bioinformatics and Translational Genetics, Berlin Institute of Health at Charité-Universitätsmedizin Berlin, Berlin, Germany.; Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.; Siapos A; Lifebit Biotech Ltd., London, UK.; Smedley D; William Harvey Research Institute, Queen Mary University of London, London, UK.; Smith LD; Genome Informatics, Ontario Institute for Cancer Research, Toronto, Ontario, Canada.; Global Alliance for Genomics and Health, N/A, Toronto, Ontario, Canada.; Steinhaus R; Bioinformatics and Translational Genetics, Berlin Institute of Health at Charité-Universitätsmedizin Berlin, Berlin, Germany.; Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.; Sundaramurthi JC; Genomic Medicine, The Jackson Laboratory, Farmington, CT, USA.; Swietlik EM; 40Medicine Department, University of Cambridge, Cambridge, UK.; Respiratory Medicine Department, Addenbrooke's Hospital, Cambridge, UK.; Cambridge Centre for Lung Infection, Royal Papworth Hospital, Cambridge, UK.; Thun S; Core Facility Digital Medicine and Interoperability, Berlin Institute of Health at Charité-Universitätsmedizin Berlin, Berlin, Germany.; Vasilevsky NA; Center for Health AI, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.; Wagner AH; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA.; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, USA.; Warner JL; Departments of Medicine and Biomedical Informatics, Vanderbilt University, Nashville, TN, USA.; Weiland C; Senckenberg-Leibniz Institution for Biodiversity and Earth System Research, Data and Modelling Centre, Frankfurt/Main, Germany.; Haendel MA; Center for Health AI, University of Colorado Anschutz Medical Campus, Aurora, CO, USA. melissa@tislab.org.; Robinson PN; Genomic Medicine, The Jackson Laboratory, Farmington, CT, USA. peter.robinson@jax.org.; Institute for Systems Genomics, University of Connecticut, Farmington, CT, USA. peter.robinson@jax.org.

Publisher: Nature America Publishing Country of Publication: United States NLM ID: 9604648 Publication Model: Print Cited Medium: Internet ISSN: 1546-1696 (Electronic) Linking ISSN: 10870156 NLM ISO Abbreviation: Nat Biotechnol Subsets: PubMed not MEDLINE; MEDLINE

Laurie S; CNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.; Piscia D; CNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.; Matalonga L; CNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.; Corvó A; CNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.; Fernández-Callejo M; CNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.; Garcia-Linares C; CNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.; European Molecular Biology Laboratory-European Bioinformatics Institute (EMBL-EBI), Wellcome Genome Campus, Hinxton, UK.; Hernandez-Ferrer C; CNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.; Luengo C; CNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.; Martínez I; CNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.; Papakonstantinou A; CNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.; Picó-Amador D; CNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.; Protasio J; CNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.; Thompson R; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada.; Tonda R; CNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.; Bayés M; CNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.; Bullich G; CNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.; Camps-Puchadas J; CNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.; Paramonov I; CNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.; Trotta JR; CNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.; Alonso A; Genomic Medicine Unit, Navarrabiomed-Universidad Pública de Navarra (UPNA)-Hospital Universitario de Navarra (HUN), IdiSNA, Pamplona, Navarra, Spain.; Attimonelli M; Department of Biosciences, Biotechnology and Biopharmaceutics, University of A. Moro, Bari, Italy.; Béroud C; INSERM, Marseille Medical Genetics, Aix Marseille University, Marseille, France.; Département de Génétique Médicale, APHM, Hôpital d'Enfants de la Timone, Marseille, France.; Bros-Facer V; EURORDIS-Rare Diseases Europe.; Buske OJ; Phenotips, Toronto, Ontario, Canada.; Cañada-Pallarés A; Fernández JM; Barcelona Supercomputing Center, Spain.; Hansson MG; Centre for Research Ethics & Bioethics, Department of Public Health and Caring Sciences, Uppsala University, Uppsala, Sweden.; Horvath R; Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom.; Jacobsen JOB; Queen Mary University of London, William Harvey Research Institute, London, UK.; Kaliyaperumal R; Leiden University Medical Center, Leiden, The Netherlands.; Lair-Préterre S; CHU Rouen, Rouen, France.; Licata L; Department of Biology, University of Rome Tor Vergata, Rome, Italy.; Fondazione Human Technopole, Milan, Italy.; Lopes P; IEETA, Aveiro, Portugal.; López-Martín E; Institute of Rare Diseases Research, Spanish Undiagnosed Rare Diseases Cases Program (SpainUDP) & Undiagnosed Diseases Network International (UDNI), Instituto de Salud Carlos III, Madrid, Spain.; Mascalzoni D; CRB-Center for Ethics and Bioethics, Uppsala University, Sweden.; Eurac Research Bolzano, Italy.; Monaco L; Fondazione Telethon, Milan, Italy.; Pérez-Jurado LA; Genetics Unit, Departament de Medicina i Ciències de la Vida, Universitat Pompeu Fabra, Barcelona, Spain.; Genetics Service, Hospital del Mar & Hospital del Mar Research Institute (IMIM), Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Barcelona, Spain.; Posada de la Paz M; Institute of Rare Diseases Research, Spanish Undiagnosed Rare Diseases Cases Program (SpainUDP) & Undiagnosed Diseases Network International (UDNI), Instituto de Salud Carlos III, Madrid, Spain.; Rambla J; Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Barcelona, Spain.; Universitat Pompeu Fabra (UPF), Barcelona, Spain.; Rath A; INSERM, US-14 Orphanet, Paris, France.; Riess O; Institute for Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Robinson PN; The Jackson Laboratory for Genomic Medicine, Farmington, CT, USA.; Salgado D; INSERM, Marseille Medical Genetics, Aix Marseille University, Marseille, France.; CNRS, Institut Français de Bioinformatique, IFB-core, Evry, France.; Smedley D; Queen Mary University of London, William Harvey Research Institute, London, UK.; Spalding D; European Molecular Biology Laboratory-European Bioinformatics Institute (EMBL-EBI), Wellcome Genome Campus, Hinxton, UK.; CSC-IT Center for Science, Life Science Center, Espoo, Finland.; 't Hoen PAC; Center for Molecular and Biomolecular Informatics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.; Töpf A; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle-upon-Tyne, UK.; Zaharieva I; UCL Great Ormond Street Institute of Child Health, Dubowitz Neuromuscular Unit, London, UK.; Graessner H; Institute for Medical Genetics and Applied Genomics, Centre for Rare Diseases, University Hospital Tübingen, Tübingen, Germany.; European Reference Network for Rare Neurological Diseases.; Gut IG; CNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.; Universitat Pompeu Fabra (UPF), Barcelona, Spain.; Lochmüller H; CNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada.; Division of Neurology, Department of Medicine, The Ottawa Hospital, Ottawa, Canada.; Brain and Mind Research Institute, University of Ottawa, Ottawa, Canada.; Department of Neuropediatrics and Muscle Disorders, Medical Center - University of Freiburg, Faculty of Medicine, Freiburg, Germany.; Beltran S; CNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.; Universitat Pompeu Fabra (UPF), Barcelona, Spain.; Departament de Genètica, Microbiologia i Estadística, Facultat de Biologia, Universitat de Barcelona (UB), Barcelona, Spain.

Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

Driver HG; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.; Hartley T; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.; Price EM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.; Turinsky AL; Centre for Computational Medicine, The Hospital for Sick Children, Toronto, Canada.; Buske OJ; PhenoTips, The Hospital for Sick Children, Toronto, Canada.; Osmond M; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.; Ramani AK; Centre for Computational Medicine, The Hospital for Sick Children, Toronto, Canada.; Kirby E; Centre of Genomics and Policy, McGill University, Montreal, Canada.; Kernohan KD; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.; Newborn Screening Ontario, Children's Hospital of Eastern Ontario, Ottawa, Canada.; Genomics4RD Steering Committee, Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada.; Couse M; Centre for Computational Medicine, The Hospital for Sick Children, Toronto, Canada.; Elrick H; Centre for Computational Medicine, The Hospital for Sick Children, Toronto, Canada.; Lu K; Centre for Computational Medicine, The Hospital for Sick Children, Toronto, Canada.; Mashouri P; Centre for Computational Medicine, The Hospital for Sick Children, Toronto, Canada.; Mohan A; Centre for Computational Medicine, The Hospital for Sick Children, Toronto, Canada.; So D; Centre for Computational Medicine, The Hospital for Sick Children, Toronto, Canada.; Klamann C; Centre for Computational Medicine, The Hospital for Sick Children, Toronto, Canada.; Le HGBH; Centre for Computational Medicine, The Hospital for Sick Children, Toronto, Canada.; Herscovich A; Genomics4RD Steering Committee, Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada.; Marshall CR; Genomics4RD Steering Committee, Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada.; Genome Diagnostics, The Hospital for Sick Children, Toronto, Canada.; Statia A; Genomics4RD Steering Committee, Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada.; Canada Consortium CR; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.; Knoppers BM; Centre of Genomics and Policy, McGill University, Montreal, Canada.; Brudno M; PhenoTips, The Hospital for Sick Children, Toronto, Canada.; Genomics4RD Steering Committee, Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada.; Techna Institute, University Health Network, Toronto, Canada.; Department of Computer Science, University of Toronto, Toronto, Canada.; Boycott KM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.; Genomics4RD Steering Committee, Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada.

Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

Osmond M; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; Hartley T; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; Dyment DA; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.; Kernohan KD; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada; Newborn Screening Ontario, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.; Brudno M; Department of Computer Science, University of Toronto, Ontario, Canada; Techna Institute, University Health Network, Toronto, Ontario, Canada.; Buske OJ; PhenoTips, Toronto, Ontario, Canada.; Innes AM; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.; Boycott KM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada. Electronic address: kboycott@cheo.on.ca.

Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

Rehm HL; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Massachusetts General Brigham, Boston, MA, USA.; Harvard Medical School, Boston, MA, USA.; Page AJH; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Global Alliance for Genomics and Health, Toronto, ON, Canada.; Smith L; Global Alliance for Genomics and Health, Toronto, ON, Canada.; Ontario Institute for Cancer Research, Toronto, ON, Canada.; Adams JB; Global Alliance for Genomics and Health, Toronto, ON, Canada.; Ontario Institute for Cancer Research, Toronto, ON, Canada.; Alterovitz G; Brigham and Women's Hospital, Boston, MA, USA.; Harvard Medical School, Boston, MA, USA.; Babb LJ; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Barkley MP; DNAstack, Toronto, ON, Canada.; Baudis M; University of Zurich, Zurich, Switzerland.; SIB Swiss Institute of Bioinformatics, Lausanne, Switzerland.; Beauvais MJS; Global Alliance for Genomics and Health, Toronto, ON, Canada.; McGill University, Montreal, QC, Canada.; Beck T; University of Leicester, Leicester, UK.; Beckmann JS; University of Lausanne, Lausanne, Switzerland.; Beltran S; CNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Barcelona, Spain.; Universitat Pompeu Fabra (UPF), Barcelona, Spain.; Universitat de Barcelona, Barcelona, Spain.; Bernick D; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Bernier A; McGill University, Montreal, QC, Canada.; Bonfield JK; Wellcome Sanger Institute, Hinxton, UK.; Boughtwood TF; Australian Genomics, Parkville, VIC, Australia.; Murdoch Children's Research Institute, Parkville, VIC, Australia.; Bourque G; McGill University, Montreal, QC, Canada.; Canadian Center for Computational Genomics, Montreal, QC, Canada.; Bowers SR; Wellcome Sanger Institute, Hinxton, UK.; Brookes AJ; University of Leicester, Leicester, UK.; Brudno M; Canadian Center for Computational Genomics, Montreal, QC, Canada.; University of Toronto, Toronto, ON, Canada.; University Health Network, Toronto, ON, Canada.; Vector Institute, Toronto, ON, Canada.; Canadian Distributed Infrastructure for Genomics (CanDIG), Toronto, ON, Canada.; Brush MH; Oregon Health and Science University, Portland, OR, USA.; Bujold D; McGill University, Montreal, QC, Canada.; Canadian Center for Computational Genomics, Montreal, QC, Canada.; Canadian Distributed Infrastructure for Genomics (CanDIG), Toronto, ON, Canada.; Burdett T; European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL-EBI), Hinxton, UK.; Buske OJ; PhenoTips, Toronto, ON, Canada.; Cabili MN; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Cameron DL; Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, Australia.; University of Melbourne, Melbourne, VIC, Australia.; Carroll RJ; Vanderbilt University Medical Center, Nashville, TN, USA.; Casas-Silva E; Kelly Government Solutions, Rockville, MD, USA.; Chakravarty D; Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Chaudhari BP; Nationwide Children's Hospital, Columbus, OH, USA.; The Ohio State University, Columbus, OH, USA.; Chen SH; National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA.; Cherry JM; Stanford University, Stanford, CA, USA.; Chung J; Global Alliance for Genomics and Health, Toronto, ON, Canada.; Ontario Institute for Cancer Research, Toronto, ON, Canada.; Cline M; UC Santa Cruz Genomics Institute, Santa Cruz, CA, USA.; Clissold HL; Wellcome Sanger Institute, Hinxton, UK.; Cook-Deegan RM; Arizona State University, Washington, DC, USA.; Courtot M; European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL-EBI), Hinxton, UK.; Cunningham F; European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL-EBI), Hinxton, UK.; Cupak M; DNAstack, Toronto, ON, Canada.; Davies RM; Wellcome Sanger Institute, Hinxton, UK.; Denisko D; University of Toronto, Toronto, ON, Canada.; Doerr MJ; Sage Bionetworks, Seattle, WA, USA.; Dolman LI; University of Toronto, Toronto, ON, Canada.; Dove ES; University of Edinburgh, Edinburgh, UK.; Dursi LJ; University Health Network, Toronto, ON, Canada.; Canadian Distributed Infrastructure for Genomics (CanDIG), Toronto, ON, Canada.; Dyke SOM; McGill University, Montreal, QC, Canada.; Eddy JA; Sage Bionetworks, Seattle, WA, USA.; Eilbeck K; University of Utah, Salt Lake City, UT, USA.; Ellrott KP; Oregon Health and Science University, Portland, OR, USA.; Fairley S; Global Alliance for Genomics and Health, Toronto, ON, Canada.; European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL-EBI), Hinxton, UK.; Fakhro KA; Sidra Medicine, Doha, Qatar.; Weill Cornell Medicine - Qatar, Doha, Qatar.; Firth HV; Wellcome Sanger Institute, Hinxton, UK.; Addenbrooke's Hospital, Cambridge, UK.; Fitzsimons MS; University of Chicago, Chicago, IL, USA.; Fiume M; DNAstack, Toronto, ON, Canada.; Flicek P; European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL-EBI), Hinxton, UK.; Fore IM; National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.; Freeberg MA; European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL-EBI), Hinxton, UK.; Freimuth RR; Mayo Clinic, Rochester, MN, USA.; Fromont LA; Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Barcelona, Spain.; Fuerth J; DNAstack, Toronto, ON, Canada.; Gaff CL; Australian Genomics, Parkville, VIC, Australia.; Murdoch Children's Research Institute, Parkville, VIC, Australia.; Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, Australia.; University of Melbourne, Melbourne, VIC, Australia.; Gan W; National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA.; Ghanaim EM; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.; Glazer D; Verily Life Sciences, South San Francisco, CA, USA.; Green RC; Brigham and Women's Hospital, Boston, MA, USA.; Harvard Medical School, Boston, MA, USA.; Griffith M; Washington University School of Medicine in St. Louis, St. Louis, MO, USA.; Griffith OL; Washington University School of Medicine in St. Louis, St. Louis, MO, USA.; Grossman RL; University of Chicago, Chicago, IL, USA.; Groza T; Pryzm Health, Sydney, QLD, Australia.; Auvil JMG; National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.; Guigó R; Universitat Pompeu Fabra (UPF), Barcelona, Spain.; Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Barcelona, Spain.; Gupta D; European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL-EBI), Hinxton, UK.; Haendel MA; University of Colorado Anschutz Medical Campus, Aurora, CO, USA.; Hamosh A; Johns Hopkins University, Baltimore, MD, USA.; Hansen DP; Australian Genomics, Parkville, VIC, Australia.; The Australian e-Health Research Centre, CSIRO, Herston, QLD, Australia.; Hart RK; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Invitae, San Francisco, CA, USA.; MyOme, Inc, San Bruno, CA, USA.; Hartley DM; Autism Speaks, Princeton, NJ, USA.; Haussler D; UC Santa Cruz Genomics Institute, Santa Cruz, CA, USA.; Howard Hughes Medical Institute, University of California, Santa Cruz, CA, USA.; Hendricks-Sturrup RM; Duke-Margolis Center for Health Policy, Washington, DC, USA.; Ho CWL; The University of Hong Kong, Hong Kong, Hong Kong.; Hobb AE; DNAstack, Toronto, ON, Canada.; Hoffman MM; University of Toronto, Toronto, ON, Canada.; University Health Network, Toronto, ON, Canada.; Vector Institute, Toronto, ON, Canada.; Hofmann OM; University of Toronto, Toronto, ON, Canada.; University of Melbourne, Melbourne, VIC, Australia.; Holub P; BBMRI-ERIC, Graz, Austria.; Masaryk University, Brno, Czech Republic.; Hsu JS; National Taiwan University, Taipei City, Taiwan.; Hubaux JP; École polytechnique fédérale de Lausanne (EPFL), Lausanne, Switzerland.; Hunt SE; European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL-EBI), Hinxton, UK.; Husami A; Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.; Jacobsen JO; Queen Mary University of London, London, UK.; Jamuar SS; SingHealth Duke-NUS Genomic Medicine Centre, Singapore, Republic of Singapore.; SingHealth Duke-NUS Institute of Precision Medicine, Singapore, Republic of Singapore.; Janes EL; Global Alliance for Genomics and Health, Toronto, ON, Canada.; University of Waterloo, Waterloo, ON, Canada.; Jeanson F; Datadex Inc., Toronto, ON, Canada.; Jené A; Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Barcelona, Spain.; Johns AL; Garvan Institute of Medical Research, Darlinghurst, NSW, Australia.; Joly Y; McGill University, Montreal, QC, Canada.; Jones SJM; Canada's Michael Smith Genome Sciences Centre, BC Cancer, Vancouver, BC, Canada.; Kanitz A; SIB Swiss Institute of Bioinformatics, Lausanne, Switzerland.; University of Basel, Basel, Switzerland.; Kato K; Osaka University, Suita, Japan.; Keane TM; European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL-EBI), Hinxton, UK.; University of Nottingham, Nottingham, UK.; Kekesi-Lafrance K; Global Alliance for Genomics and Health, Toronto, ON, Canada.; McGill University, Montreal, QC, Canada.; Kelleher J; University of Oxford, Oxford, UK.; Kerry G; European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL-EBI), Hinxton, UK.; Khor SS; National Center for Global Health and Medicine Hospital, Tokyo, Japan.; University of Tokyo, Tokyo, Japan.; Knoppers BM; McGill University, Montreal, QC, Canada.; Konopko MA; ELIXIR Hub, Hinxton, UK.; Kosaki K; Keio University School of Medicine, Tokyo, Japan.; Kuba M; Masaryk University, Brno, Czech Republic.; Lawson J; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Leinonen R; European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL-EBI), Hinxton, UK.; Li S; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Global Alliance for Genomics and Health, Toronto, ON, Canada.; Lin MF; mlin.net LLC, San Jose, CA, USA.; Linden M; CSC-IT Center for Science, Espoo, Finland.; ELIXIR Finland, Espoo, Finland.; Liu X; University of Waterloo, Waterloo, ON, Canada.; Udara Liyanage I; European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL-EBI), Hinxton, UK.; Lopez J; Genomics England, London, UK.; Lucassen AM; Faculty of Medicine, University Southampton, Southampton, UK.; Lukowski M; University of Chicago, Chicago, IL, USA.; Mann AL; Global Alliance for Genomics and Health, Toronto, ON, Canada.; Wellcome Sanger Institute, Hinxton, UK.; Marshall J; University of Glasgow, Glasgow, UK.; Mattioni M; Seven Bridges, Boston, MA, USA.; Metke-Jimenez A; The Australian e-Health Research Centre, CSIRO, Herston, QLD, Australia.; Middleton A; Wellcome Connecting Science, Hinxton, UK.; University of Cambridge, Cambridge, UK.; Milne RJ; Wellcome Connecting Science, Hinxton, UK.; University of Cambridge, Cambridge, UK.; Molnár-Gábor F; Heidelberg Academy of Sciences and Humanities, Heidelberg, Germany.; Mulder N; H3ABioNet, Computational Biology Division, IDM, Faculty of Health Sciences, Cape Town, South Africa.; Munoz-Torres MC; University of Colorado Anschutz Medical Campus, Aurora, CO, USA.; Nag R; European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL-EBI), Hinxton, UK.; Nakagawa H; Japan Agency for Medical Research & Development (AMED), Tokyo, Japan.; RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.; Nasir J; University of Northampton, Northampton, UK.; Navarro A; Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Barcelona, Spain.; Institute of Evolutionary Biology (UPF-CSIC), Universitat Pompeu Fabra (UPF), Barcelona, Spain.; Institució Catalana de Recerca i Estudis Avançats, Barcelona, Spain.; Barcelonaβeta Brain Research Center (BBRC), Pasqual Maragall Foundation, Barcelona, Spain.; Nelson TH; Genomic Medicine Institute, Geisinger, Danville, PA, USA.; Niewielska A; European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL-EBI), Hinxton, UK.; Nisselle A; Murdoch Children's Research Institute, Parkville, VIC, Australia.; University of Melbourne, Melbourne, VIC, Australia.; Human Genetics Society of Australasia Education, Ethics & Social Issues Committee, Alexandria, NSW, Australia.; Niu J; University Health Network, Toronto, ON, Canada.; Nyrönen TH; CSC-IT Center for Science, Espoo, Finland.; ELIXIR Finland, Espoo, Finland.; O'Connor BD; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Oesterle S; SIB Swiss Institute of Bioinformatics, Lausanne, Switzerland.; Ogishima S; Tohoku University, Sendai, Japan.; Wang VO; National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.; Paglione LAD; Spherical Cow Group, New York, NY, USA.; Laura Paglione LLC, New York, NY, USA.; Palumbo E; Universitat Pompeu Fabra (UPF), Barcelona, Spain.; Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Barcelona, Spain.; Parkinson HE; European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL-EBI), Hinxton, UK.; Philippakis AA; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Pizarro AD; Amazon Web Services, Inc., Seattle, WA, USA.; Prlic A; Invitae, San Francisco, CA, USA.; Rambla J; Universitat Pompeu Fabra (UPF), Barcelona, Spain.; Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Barcelona, Spain.; Rendon A; Genomics England, London, UK.; Rider RA; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.; Robinson PN; The Jackson Laboratory, Farmington, CT, USA.; University of Connecticut, Farmington, CT, USA.; Rodarmer KW; National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, MD, USA.; Rodriguez LL; Patient-Centered Outcomes Research Institute (PCORI), Washington, DC, USA.; Rubin AF; Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, Australia.; University of Melbourne, Melbourne, VIC, Australia.; Rueda M; Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Barcelona, Spain.; Rushton GA; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Ryan RS; Bicgen Foundation Inc, Arlington Heights, IL, USA.; Saunders GI; ELIXIR Hub, Hinxton, UK.; Schuilenburg H; European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL-EBI), Hinxton, UK.; Schwede T; SIB Swiss Institute of Bioinformatics, Lausanne, Switzerland.; University of Basel, Basel, Switzerland.; Scollen S; ELIXIR Hub, Hinxton, UK.; Senf A; Congenica Ltd., Cambridge, UK.; Sheffield NC; University of Virginia, Charlottesville, VA, USA.; Skantharajah N; Global Alliance for Genomics and Health, Toronto, ON, Canada.; Ontario Institute for Cancer Research, Toronto, ON, Canada.; Smith AV; University of Michigan, Ann Arbor, MI, USA.; Sofia HJ; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.; Spalding D; CSC-IT Center for Science, Espoo, Finland.; ELIXIR Finland, Espoo, Finland.; Spurdle AB; QIMR Berghofer Medical Research Institute, Herston, QLD, Australia.; Stark Z; Australian Genomics, Parkville, VIC, Australia.; Murdoch Children's Research Institute, Parkville, VIC, Australia.; University of Melbourne, Melbourne, VIC, Australia.; Stein LD; Ontario Institute for Cancer Research, Toronto, ON, Canada.; University of Toronto, Toronto, ON, Canada.; Suematsu M; Keio University School of Medicine, Tokyo, Japan.; Tan P; SingHealth Duke-NUS Genomic Medicine Centre, Singapore, Republic of Singapore.; Precision Health Research Singapore, Singapore, Republic of Singapore.; Genome Institute of Singapore, Singapore, Republic of Singapore.; Tedds JA; ELIXIR Hub, Hinxton, UK.; Thomson AA; National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA.; Thorogood A; McGill University, Montreal, QC, Canada.; University of Luxembourg, Esch-sur-Alzette, Luxembourg.; Tickle TL; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Tokunaga K; University of Tokyo, Tokyo, Japan.; National Center for Global Health and Medicine, Tokyo, Japan.; Törnroos J; CSC-IT Center for Science, Espoo, Finland.; ELIXIR Finland, Espoo, Finland.; Torrents D; Institució Catalana de Recerca i Estudis Avançats, Barcelona, Spain.; Barcelona Supercomputing Center, Barcelona, Spain.; Upchurch S; California Institute of Technology, Pasadena, CA, USA.; Valencia A; Institució Catalana de Recerca i Estudis Avançats, Barcelona, Spain.; Barcelona Supercomputing Center, Barcelona, Spain.; Guimera RV; University of Melbourne, Melbourne, VIC, Australia.; Vamathevan J; European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL-EBI), Hinxton, UK.; Varma S; European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL-EBI), Hinxton, UK.; Health Data Research UK, London, UK.; Vears DF; Murdoch Children's Research Institute, Parkville, VIC, Australia.; University of Melbourne, Melbourne, VIC, Australia.; Human Genetics Society of Australasia Education, Ethics & Social Issues Committee, Alexandria, NSW, Australia.; Melbourne Law School, University of Melbourne, Parkville, VIC, Australia.; Viner C; University of Toronto, Toronto, ON, Canada.; University Health Network, Toronto, ON, Canada.; Voisin C; Google LLC, Kitchener, ON, Canada.; Wagner AH; Nationwide Children's Hospital, Columbus, OH, USA.; The Ohio State University, Columbus, OH, USA.; Wallace SE; University of Leicester, Leicester, UK.; Walsh BP; Oregon Health and Science University, Portland, OR, USA.; Williams MS; Genomic Medicine Institute, Geisinger, Danville, PA, USA.; Winkler EC; Section of Translational Medical Ethics, University Hospital Heidelberg, Heidelberg, Germany.; Wold BJ; California Institute of Technology, Pasadena, CA, USA.; Wood GM; Salt Lake City, UT, USA.; Woolley JP; University of Oxford, Oxford, UK.; Yamasaki C; Osaka University, Suita, Japan.; Yates AD; European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL-EBI), Hinxton, UK.; Yung CK; Ontario Institute for Cancer Research, Toronto, ON, Canada.; Indoc Research, Toronto, ON, Canada.; Zass LJ; H3ABioNet, Computational Biology Division, IDM, Faculty of Health Sciences, Cape Town, South Africa.; Zaytseva K; McGill University, Montreal, QC, Canada.; Canadian Centre for Computational Genomics, Montreal, QC, Canada.; Zhang J; Ontario Institute for Cancer Research, Toronto, ON, Canada.; Goodhand P; Global Alliance for Genomics and Health, Toronto, ON, Canada.; Ontario Institute for Cancer Research, Toronto, ON, Canada.; North K; Murdoch Children's Research Institute, Parkville, VIC, Australia.; University of Toronto, Toronto, ON, Canada.; University of Melbourne, Melbourne, VIC, Australia.; Birney E; European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL-EBI), Hinxton, UK.; European Molecular Biology Laboratory, Heidelberg, Germany.

Publisher: Elsevier, Inc Country of Publication: United States NLM ID: 9918284260106676 Publication Model: Print Cited Medium: Internet ISSN: 2666-979X (Electronic) Linking ISSN: 2666979X NLM ISO Abbreviation: Cell Genom Subsets: PubMed not MEDLINE

Köhler S; Charité Centrum für Therapieforschung, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany.; Einstein Center Digital Future, Berlin, Germany.; Monarch Initiative (monarchinitiative.org).; Øien NC; Freelance Genome Analyst, Berlin, Germany.; Buske OJ; Gene42, Toronto, Ontario, Canada.; Groza T; Pryzm Health, Perth, Australia.; Jacobsen JOB; Monarch Initiative (monarchinitiative.org).; Queen Mary University of London, Charterhouse Square, London, United Kingdom.; McNamara C; Pryzm Health, Perth, Australia.; Vasilevsky N; Monarch Initiative (monarchinitiative.org).; Oregon Health & Science University, Portland, Oregon.; Carmody LC; Monarch Initiative (monarchinitiative.org).; The Jackson Laboratory for Genomic Medicine, Farmington, Connecticut.; Gourdine JP; Monarch Initiative (monarchinitiative.org).; Oregon Health & Science University, Portland, Oregon.; Gargano M; Monarch Initiative (monarchinitiative.org).; The Jackson Laboratory for Genomic Medicine, Farmington, Connecticut.; McMurry JA; Monarch Initiative (monarchinitiative.org).; Oregon State University, Corvallis, Oregon.; Danis D; Monarch Initiative (monarchinitiative.org).; The Jackson Laboratory for Genomic Medicine, Farmington, Connecticut.; Mungall CJ; Monarch Initiative (monarchinitiative.org).; Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, California.; Smedley D; Monarch Initiative (monarchinitiative.org).; Queen Mary University of London, Charterhouse Square, London, United Kingdom.; Haendel M; Monarch Initiative (monarchinitiative.org).; Oregon Health & Science University, Portland, Oregon.; Oregon State University, Corvallis, Oregon.; Robinson PN; Monarch Initiative (monarchinitiative.org).; The Jackson Laboratory for Genomic Medicine, Farmington, Connecticut.; Institute for Systems Genomics, University of Connecticut, Farmington, Connecticut.

Country of Publication: United States NLM ID: 101287858 Publication Model: Print Cited Medium: Internet ISSN: 1934-8258 (Electronic) Linking ISSN: 19348258 NLM ISO Abbreviation: Curr Protoc Hum Genet Subsets: MEDLINE

Sobreira NLM; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland.; Arachchi H; The Broad Institute of MIT and Harvard, Cambridge, Massachusetts.; Buske OJ; Centre for Computational Medicine, Hospital for Sick Children, Toronto, Ontario, Canada.; Chong JX; Department of Pediatrics, University of Washington, Seattle, Washington.; Hutton B; Wellcome Trust Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridgeshire, United Kingdom.; Foreman J; Wellcome Trust Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridgeshire, United Kingdom.; Schiettecatte F; FS Consulting LLC, Seattle, Washington.; Groza T; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, The Kinghorn Cancer Centre, Darlinghurst, New South Wales, Australia.; St Vincent's Clinical School, Faculty of Medicine, University of New South Wales, Darlinghurst, New South Wales, Australia.; Jacobsen JOB; William Harvey Research Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom.; Haendel MA; Department of Medical Informatics and Clinical Epidemiology, Oregon Health & Science University, Portland, Oregon.; Boycott KM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; Hamosh A; McKusick-Nathans Institute of Genetic Medicine (IGM), Clinical Director, IGM. Scientific Director, OMIM. Johns Hopkins University. Baltimore, Maryland.; Rehm HL; The Broad Institute of MIT and Harvard, Cambridge, Massachusetts.

Country of Publication: United States NLM ID: 101287858 Publication Model: Electronic Cited Medium: Internet ISSN: 1934-8258 (Electronic) Linking ISSN: 19348258 NLM ISO Abbreviation: Curr Protoc Hum Genet Subsets: MEDLINE

Köhler S; Institute for Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany dr.sebastian.koehler@gmail.com.; Vasilevsky NA; Library and Department of Medical Informatics and Clinical Epidemiology, Oregon Health & Science University, Portland, OR 97239, USA.; Engelstad M; Library and Department of Medical Informatics and Clinical Epidemiology, Oregon Health & Science University, Portland, OR 97239, USA.; Foster E; Library and Department of Medical Informatics and Clinical Epidemiology, Oregon Health & Science University, Portland, OR 97239, USA.; McMurry J; Library and Department of Medical Informatics and Clinical Epidemiology, Oregon Health & Science University, Portland, OR 97239, USA.; Aymé S; Institut du Cerveau et de la Moelle épinière-ICM, CNRS UMR 7225-Inserm U 1127-UPMC-P6 UMR S 1127, Hôpital Pitié-Salpêtrière, 47, bd de l'Hôpital, 75013 Paris, France.; Baynam G; Western Australian Register of Developmental Anomalies and Genetic Services of Western Australia, King Edward Memorial Hospital Department of Health, Government of Western Australia, Perth, WA 6008, Australia.; School of Paediatrics and Child Health, University of Western Australia, Perth, WA 6008, Australia.; Bello SM; The Jackson Laboratory, 600 Main St, Bar Harbor, ME 04609, USA.; Boerkoel CF; Imagenetics Research, Sanford Health, PO Box 5039, Route 5001, Sioux Falls, SD 57117-5039, USA.; Boycott KM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; Brudno M; Department of Computer Science, University of Toronto, Toronto, ON M5S 2E4, Canada Centre for Computational Medicine, Hospital for Sick Children, Toronto, ON M5G 1L7, Canada.; Buske OJ; Department of Computer Science, University of Toronto, Toronto, ON M5S 2E4, Canada Centre for Computational Medicine, Hospital for Sick Children, Toronto, ON M5G 1L7, Canada.; Chinnery PF; Department of Clinical Neurosciences, School of Clinical Medicine, University of Cambridge, Cambridge CB2 0QQ, UK.; NIHR Rare Diseases Translational Research Collaboration, Cambridge Biomedical Campus, Cambridge CB2 0QQ, UK.; Cipriani V; UCL Institute of Ophthalmology, Department of Ocular Biology and Therapeutics, 11-43 Bath Street, London EC1V 9EL, UK.; UCL Genetics Institute, University College London, London WC1E 6BT, UK.; Connell LE; Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY, USA.; Dawkins HJ; Office of Population Health Genomics, Public Health Division, Health Department of Western Australia, 189 Royal Street, Perth, WA, 6004 Australia.; DeMare LE; Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY, USA.; Devereau AD; Genomics England, Queen Mary University of London, Dawson Hall, Charterhouse Square, London EC1M 6BQ, UK.; de Vries BB; Department of Human Genetics, Radboud University, University Medical Centre, Nijmegen, The Netherlands.; Firth HV; Wellcome Trust Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK.; Freson K; Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, University of Leuven, Leuven, Belgium.; Greene D; Department of Haematology, University of Cambridge, NHS Blood and Transplant Centre, Long Road, Cambridge CB2 0PT, UK.; Medical Research Council Biostatistics Unit, Cambridge Institute of Public Health, Cambridge Biomedical Campus, Cambridge, UK.; Hamosh A; McKusick-Nathans Institute of Genetic Medicine, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Helbig I; Division of Neurology, The Children's Hospital of Philadelphia, 3501 Civic Center Blvd, Philadelphia, PA 19104, USA.; Department of Neuropediatrics, University Medical Center Schleswig-Holstein (UKSH), Kiel, Germany.; Hum C; Centre for Computational Medicine, The Hospital for Sick Children, Toronto, ON M5G 1H3, Canada.; Jähn JA; Department of Neuropediatrics, University Medical Center Schleswig-Holstein (UKSH), Kiel, Germany.; James R; NIHR Rare Diseases Translational Research Collaboration, Cambridge Biomedical Campus, Cambridge CB2 0QQ, UK.; Medical Research Council Biostatistics Unit, Cambridge Institute of Public Health, Cambridge Biomedical Campus, Cambridge, UK.; Krause R; LuxembourgCentre for Systems Biomedicine, University of Luxembourg, 7, avenue des Hauts-Fourneaux, L-4362 Esch-sur-Alzette, Luxembourg.; F Laulederkind SJ; Human and Molecular Genetics Center, Medical College of Wisconsin, USA.; Lochmüller H; John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, University of Newcastle, Newcastle upon Tyne, UK.; Lyon GJ; Stanley Institute for Cognitive Genomics, Cold Spring Harbor Laboratory, New York, NY 11797, USA.; Ogishima S; Dept of Bioclinical Informatics, Tohoku Medical Megabank Organization, Tohoku University, Tohoku Medical Megabank Organization Bldg 7F room #741,736, Seiryo 2-1, Aoba-ku, Sendai Miyagi 980-8573 Japan.; Olry A; Orphanet-INSERM, US14, Plateforme Maladies Rares, 96 rue Didot, 75014 Paris, France.; Ouwehand WH; Medical Research Council Biostatistics Unit, Cambridge Institute of Public Health, Cambridge Biomedical Campus, Cambridge, UK.; Pontikos N; UCL Institute of Ophthalmology, Department of Ocular Biology and Therapeutics, 11-43 Bath Street, London EC1V 9EL, UK.; UCL Genetics Institute, University College London, London WC1E 6BT, UK.; Rath A; Orphanet-INSERM, US14, Plateforme Maladies Rares, 96 rue Didot, 75014 Paris, France.; Schaefer F; Division of Pediatric Nephrology and KFH Children's Kidney Center, Center for Pediatrics and Adolescent Medicine, 69120 Heidelberg, Germany.; Scott RH; Genomics England, Queen Mary University of London, Dawson Hall, Charterhouse Square, London EC1M 6BQ, UK.; Segal M; SimulConsult Inc., 27 Crafts Road, Chestnut Hill, MA 02467, USA.; Sergouniotis PI; Manchester Royal Eye Hospital & University of Manchester, Manchester M13 9WL, UK.; Sever R; Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY, USA.; Smith CL; The Jackson Laboratory, 600 Main St, Bar Harbor, ME 04609, USA.; Straub V; John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, University of Newcastle, Newcastle upon Tyne, UK.; Thompson R; John Walton Muscular Dystrophy Research Centre, MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, University of Newcastle, Newcastle upon Tyne, UK.; Turner C; 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Publisher: Oxford University Press Country of Publication: England NLM ID: 0411011 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1362-4962 (Electronic) Linking ISSN: 03051048 NLM ISO Abbreviation: Nucleic Acids Res Subsets: MEDLINE